Congenital heart defect is a problem with the heart’s structure and function that is present at birth.

Often, no cause for congenital heart defect can be found. Drugs such as retinoic acid for acne, chemicals, alcohol, and infections (such as rubella) during pregnancy can contribute to some congenital heart problems. Poorly controlled blood sugar in women who have diabetes during pregnancy has also been linked to a high rate of congenital heart defects.

There are many types of congenital heart defects, which can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely.

Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Signs and symptoms of severe heart defects in newborns include:

  • Rapid breathing
  • Cyanosis – a bluish tint to the skin, lips, and fingernails
  • Fatigue
  • Poor blood circulation


Doctors use a physical exam and special heart tests to diagnose congenital heart defects.

  • X-ray to see whether the heart is enlarged and whether there is congestion (fluid buildup) in the lungs.
  • Electrocardiogram (ECG). An electrocardiogram records electrical signals as they travel through your heart. An ECG can often reveal evidence of enlargement of heart muscle wall.
  • Echocardiogram. An echocardiogram uses sound waves to produce images of your heart. It allows the doctor to clearly see any problem with the way the heart is formed or the way it’s working.
  • Pulse Oximetry. For this test, a small sensor is attached to a finger or toe (like an adhesive bandage). The sensor gives an estimate of how much oxygen is in the blood.
  • Cardiac catheterization. A very small tube (catheter) is inserted into a blood vessel in your upper thigh (groin area) or arm. The tip of the tube is positioned either in the heart or at the beginning of the arteries supplying the heart. A special fluid (called a contrast medium or dye) is injected. The dye allows the doctor to see blood flowing through the heart and blood vessels on an x-ray image. The doctor also can use cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is mixing between the two sides of the heart. Cardiac catheterization also is used to repair some heart defects.



Many children who have congenital heart defects don’t need treatment. For those who do require treatment, doctors perform catheter procedures or surgery. Sometimes catheter and surgical procedures are combined to repair complex heart defects, which may involve several kinds of defects. Treatment depends on the type and severity of the heart defect. Other factors include the child’s age, size, and general health.

Catheter procedures

Catheter procedures are much easier on patients than surgery. They involve only a needle puncture in the skin where the catheter (thin, flexible tube) is inserted into a vein or an artery. Doctors don’t have to cut open the chest or operate directly on the heart to repair the defect(s). This means that recovery may be easier and quicker.


A child may need open-heart surgery if his or her heart defect can’t be fixed using a catheter procedure. Sometimes multiple operations are needed to repair the defect completely.

Open-heart surgery is performed to:

  • Close holes in the heart with stitches or a patch
  • Repair or replace heart valves
  • Widen arteries or openings to heart valves
  • Repair complex defects, such as problems with the location of blood vessels near the heart or how they are formed

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